title: TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
abstract: We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metabolic function of the enzyme complex. Our results show that TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes.
authors.affiliation: Institute of Inherited Metabolic Disorders, Charles University of Prague, First Faculty of Medicine, Prague 12808, Czech Republic.
authors.forename: Alena
authors.initials: A
authors.lastname: Cízková
authors.forename: Viktor
authors.initials: V
authors.lastname: Stránecký
authors.forename: Johannes A
authors.initials: JA
authors.lastname: Mayr
authors.forename: Markéta
authors.initials: M
authors.lastname: Tesarová
authors.forename: Vendula
authors.initials: V
authors.lastname: Havlícková
authors.forename: Jan
authors.initials: J
authors.lastname: Paul
authors.forename: Robert
authors.initials: R
authors.lastname: Ivánek
authors.forename: Andreas W
authors.initials: AW
authors.lastname: Kuss
authors.forename: Hana
authors.initials: H
authors.lastname: Hansíková
authors.forename: Vilma
authors.initials: V
authors.lastname: Kaplanová
authors.forename: Marek
authors.initials: M
authors.lastname: Vrbacký
authors.forename: Hana
authors.initials: H
authors.lastname: Hartmannová
authors.forename: Lenka
authors.initials: L
authors.lastname: Nosková
authors.forename: Tomás
authors.initials: T
authors.lastname: Honzík
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Drahota
authors.forename: Martin
authors.initials: M
authors.lastname: Magner
authors.forename: Katerina
authors.initials: K
authors.lastname: Hejzlarová
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Sperl
authors.forename: Jirí
authors.initials: J
authors.lastname: Zeman
authors.forename: Josef
authors.initials: J
authors.lastname: Houstek
authors.forename: Stanislav
authors.initials: S
authors.lastname: Kmoch
mesh_terms: D009202:Cardiomyopathies / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D002460:Cell Line; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D005816:Genetic Complementation Test; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D025261:Mitochondrial Proton-Translocating ATPases / Q000172:deficiency*; D009154:Mutation / Q000235:genetics*; D014162:Transfection
chemical_list: D018076:DNA, Complementary; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C533106:TMEM70 protein, human; D025261:Mitochondrial Proton-Translocating ATPases